Product Details

SNP ID

rs137852344

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:154532245 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCAGCTCAATCTGGTGCAGCAGT[C/G]GGGTGAAAATACGCCAGGCCTCACG

Phenotype

MIM: 305900 MIM: 300248

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

G6PD PubMed Links

Gene Details

Gene

G6PD

Gene Name

glucose-6-phosphate dehydrogenase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000402.4	1527	Missense Mutation	CCA,CGA	P497R	NP_000393.4
NM_001042351.2	1527	Missense Mutation	CCA,CGA	P467R	NP_001035810.1

Gene

IKBKG

Gene Name

inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma

There are no transcripts associated with this gene.

View Full Product Details